A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy

Authors
Karadimas, C Tanji, K Geremek, M Chronopoulou, P Vu, T Krishna, S Sue, CM Shanske, S Bonilla, E DiMauro, S Lipson, M Bachman, R
Citation
C. Karadimas et al., A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy, J CHILD NEU, 16(7), 2001, pp. 531-533
Citations number
23
Categorie Soggetti
Pediatrics,"Neurosciences & Behavoir
Journal title
JOURNAL OF CHILD NEUROLOGY
ISSN journal
08830738 → ACNP
Volume
16
Issue
7
Year of publication
2001
Pages
531 - 533
Database
ISI
SICI code
0883-0738(200107)16:7<531:AMIMDC>2.0.ZU;2-U
Abstract
We describe a 5-year-old child with hypertrophic cardiomyopathy, mitochondr ial myopathy, and lactic acidosis. Mitochondrial DNA analysis showed a hete roplasmic A5814G point mutation in the tRNA(Cys) gene. The mutational load was extremely high (> 95%) in muscle, fibroblasts, and blood. This report e xpands the clinical heterogeneity of the A5814G mutation, which should be c onsidered in the differential diagnosis of hytertrophic cardiomyopathy in c hildhood.